LOCUS       NM_145313               3382 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens RasGEF domain family member 1A (RASGEF1A), transcript
            variant 2, mRNA.
ACCESSION   NM_145313
VERSION     NM_145313.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3382)
  AUTHORS   He,X., Zhang,W., Fu,W., Liu,X., Yang,P., Wang,J., Zhu,M., Li,S.,
            Zhang,W., Zhang,X., Dong,G., Yan,C., Zhao,Y., Zeng,Z. and Jing,H.
  TITLE     The prognostic value of RASGEF1A RNA expression and DNA methylation
            in cytogenetically normal acute myeloid leukemia
  JOURNAL   Cancer Biomark 36 (2), 103-116 (2023)
   PUBMED   36404533
  REMARK    GeneRIF: The prognostic value of RASGEF1A RNA expression and DNA
            methylation in cytogenetically normal acute myeloid leukemia.
REFERENCE   2  (bases 1 to 3382)
  AUTHORS   Kim,J.H., Cheong,H.S., Sul,J.H., Seo,J.M., Kim,D.Y., Oh,J.T.,
            Park,K.W., Kim,H.Y., Jung,S.M., Jung,K., Cho,M.J., Bae,J.S. and
            Shin,H.D.
  TITLE     A genome-wide association study identifies potential susceptibility
            loci for Hirschsprung disease
  JOURNAL   PLoS One 9 (10), e110292 (2014)
   PUBMED   25310821
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3382)
  AUTHORS   Lee,J.H., Cheng,R., Honig,L.S., Feitosa,M., Kammerer,C.M.,
            Kang,M.S., Schupf,N., Lin,S.J., Sanders,J.L., Bae,H., Druley,T.,
            Perls,T., Christensen,K., Province,M. and Mayeux,R.
  TITLE     Genome wide association and linkage analyses identified three
            loci-4q25, 17q23.2, and 10q11.21-associated with variation in
            leukocyte telomere length: the Long Life Family Study
  JOURNAL   Front Genet 4, 310 (2014)
   PUBMED   24478790
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3382)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 3382)
  AUTHORS   Yaman,E., Gasper,R., Koerner,C., Wittinghofer,A. and Tazebay,U.H.
  TITLE     RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that
            discriminate between Rap GTP-binding proteins and mediate
            Rap2-specific nucleotide exchange
  JOURNAL   FEBS J 276 (16), 4607-4616 (2009)
   PUBMED   19645719
  REMARK    GeneRIF: analyzed residues that allow RasGEF1 proteins to
            discriminate between Rap1 and Rap2, and identified Phe39 in the
            switch I region of Rap2 as a specificity residue.
REFERENCE   6  (bases 1 to 3382)
  AUTHORS   Garcia-Barcelo,M.M., Tang,C.S., Ngan,E.S., Lui,V.C., Chen,Y.,
            So,M.T., Leon,T.Y., Miao,X.P., Shum,C.K., Liu,F.Q., Yeung,M.Y.,
            Yuan,Z.W., Guo,W.H., Liu,L., Sun,X.B., Huang,L.M., Tou,J.F.,
            Song,Y.Q., Chan,D., Cheung,K.M., Wong,K.K., Cherny,S.S., Sham,P.C.
            and Tam,P.K.
  TITLE     Genome-wide association study identifies NRG1 as a susceptibility
            locus for Hirschsprung's disease
  JOURNAL   Proc Natl Acad Sci U S A 106 (8), 2694-2699 (2009)
   PUBMED   19196962
REFERENCE   7  (bases 1 to 3382)
  AUTHORS   Ura,K., Obama,K., Satoh,S., Sakai,Y., Nakamura,Y. and Furukawa,Y.
  TITLE     Enhanced RASGEF1A expression is involved in the growth and
            migration of intrahepatic cholangiocarcinoma
  JOURNAL   Clin Cancer Res 12 (22), 6611-6616 (2006)
   PUBMED   17121879
REFERENCE   8  (bases 1 to 3382)
  AUTHORS   Burzynski,G.M., Nolte,I.M., Bronda,A., Bos,K.K., Osinga,J., Plaza
            Menacho,I., Twigt,B., Maas,S., Brooks,A.S., Verheij,J.B., Buys,C.H.
            and Hofstra,R.M.
  TITLE     Identifying candidate Hirschsprung disease-associated RET variants
  JOURNAL   Am J Hum Genet 76 (5), 850-858 (2005)
   PUBMED   15759212
REFERENCE   9  (bases 1 to 3382)
  AUTHORS   Emison,E.S., McCallion,A.S., Kashuk,C.S., Bush,R.T., Grice,E.,
            Lin,S., Portnoy,M.E., Cutler,D.J., Green,E.D. and Chakravarti,A.
  TITLE     A common sex-dependent mutation in a RET enhancer underlies
            Hirschsprung disease risk
  JOURNAL   Nature 434 (7035), 857-863 (2005)
   PUBMED   15829955
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068707.7.
            
            On Jun 2, 2019 this sequence version replaced NM_145313.3.
            
            Transcript Variant: This variant (2) uses an alternate 5' terminal
            exon and initiates translation at a downstream start codon,
            compared to variant 1. The encoded isoform (2) has a shorter
            N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.138112.1,
                                           SRR1803611.241323.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395810.6/ ENSP00000379155.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               AC068707.7         75102-75322         c
            222-425             AC068707.7         14176-14379         c
            426-548             AC068707.7         11555-11677         c
            549-686             AC068707.7         10065-10202         c
            687-908             AC068707.7         8924-9145           c
            909-983             AC068707.7         8439-8513           c
            984-1076            AC068707.7         7933-8025           c
            1077-1179           AC068707.7         7349-7451           c
            1180-1259           AC068707.7         7190-7269           c
            1260-1451           AC068707.7         6261-6452           c
            1452-1575           AC068707.7         5233-5356           c
            1576-1648           AC068707.7         4733-4805           c
            1649-3382           AC068707.7         2792-4525           c
FEATURES             Location/Qualifiers
     source          1..3382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     gene            1..3382
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /note="RasGEF domain family member 1A"
                     /db_xref="GeneID:221002"
                     /db_xref="HGNC:HGNC:24246"
                     /db_xref="MIM:614531"
     exon            1..221
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            222..425
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..1673
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /note="isoform 2 is encoded by transcript variant 2;
                     CG4853 gene product; ras-GEF domain-containing family
                     member 1A"
                     /codon_start=1
                     /product="ras-GEF domain-containing family member 1A
                     isoform 2"
                     /protein_id="NP_660356.2"
                     /db_xref="CCDS:CCDS7202.2"
                     /db_xref="GeneID:221002"
                     /db_xref="HGNC:HGNC:24246"
                     /db_xref="MIM:614531"
                     /translation="MPQTSVVFSSILGPSCSGQVQPGMGERGGGAGGGSGDLIFQDGH
                     LISGSLEALMEHLVPTVDYYPDRTYIFTFLLSSRVFMPPHDLLARVGQICVEQKQQLE
                     AGPEKAKLKSFSAKIVQLLKEWTEAFPYDFQDEKAMAELKAITHRVTQCDEENGTVKK
                     AIAQMTQSLLLSLAARSQLQELREKLRPPAVDKGPILKTKPPAAQKDILGVCCDPLVL
                     AQQLTHIELDRVSSIYPEDLMQIVSHMDSLDNHRCRGDLTKTYSLEAYDNWFNCLSML
                     VATEVCRVVKKKHRTRMLEFFIDVARECFNIGNFNSMMAIISGMNLSPVARLKKTWSK
                     VKTAKFDVLEHHMDPSSNFCNYRTALQGATQRSQMANSSREKIVIPVFNLFVKDIYFL
                     HKIHTNHLPNGHINFKKFWEISRQIHEFMTWTQVECPFEKDKKIQSYLLTAPIYSEEA
                     LFVASFESEGPENHMEKDSWKTLRTTLLNRA"
     exon            426..548
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            549..686
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            687..908
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            909..983
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1076
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1179
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1259
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1451
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1575
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1648
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..3382
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3360..3365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /note="hexamer: AATAAA"
     polyA_site      3382
                     /gene="RASGEF1A"
                     /gene_synonym="CG4853"
                     /note="major polyA site"
ORIGIN      
        1 gctccgcgct cgctcgttcg ctcgctcgct cgcgctcccc ggcgccggct gcggagggag
       61 ctgctctgcc cgcagctggc gcagcgcggg ggcggccgcg ggtgggcggg tgccgcgggc
      121 ccgggcgccg agcatgagcc gccgccggcg ccggccgcgc gctgctcggg gcccgactgc
      181 ggcgcgaggg cggcgcggga gcgacgctgg cccggaccga ggaaactatg ccccagacgt
      241 ccgttgtctt ctccagcatc cttgggccca gctgtagcgg acaggtgcag cctggcatgg
      301 gggagcgtgg aggcggggcc ggtggcggct ccggggacct catcttccaa gatggacacc
      361 tcatctctgg gtccctggag gccctgatgg agcaccttgt tcccacggtg gactattacc
      421 ccgataggac gtacatcttc acctttctcc tgagctcccg ggtctttatg ccccctcatg
      481 acctgctggc ccgcgtgggg cagatctgcg tggagcagaa gcagcagctg gaagccgggc
      541 ctgaaaaggc caagctgaag tctttctcag ccaagatcgt gcagctcctg aaggagtgga
      601 ccgaggcctt cccctatgac ttccaggatg agaaggccat ggccgagctg aaagccatca
      661 cacaccgtgt cacccagtgt gatgaggaga atggcacagt gaagaaggcc attgcccaga
      721 tgacacagag cctgttgctg tccttggctg cccggagcca gctccaggaa ctgcgagaga
      781 agctccggcc accggctgta gacaaggggc ccatcctcaa gaccaagcca ccagccgccc
      841 agaaggacat cctgggcgtg tgctgcgacc ccctggtgct ggcccagcag ctgactcaca
      901 ttgagctgga cagggtcagc agcatttacc ctgaggactt gatgcagatc gtcagccaca
      961 tggactcctt ggacaaccac aggtgccgag gggacctgac caagacctac agcctggagg
     1021 cctatgacaa ctggttcaac tgcctgagca tgctggtggc cactgaggtg tgccgggtgg
     1081 tgaagaagaa acaccggacc cgcatgttgg agttcttcat tgatgtggcc cgggagtgct
     1141 tcaacatcgg gaacttcaac tccatgatgg ccatcatctc tggcatgaac ctcagtcctg
     1201 tggcaaggct gaagaaaact tggtccaagg tcaagacagc caagtttgat gtcttggagc
     1261 atcacatgga cccgtccagc aacttctgca actaccgtac agccctgcag ggggccacgc
     1321 agaggtccca gatggccaac agcagccgtg aaaagatcgt catccctgtg ttcaacctct
     1381 tcgttaagga catctacttc ctgcacaaaa tccataccaa ccacctgccc aacgggcaca
     1441 ttaactttaa gaaattctgg gagatctcca gacagatcca tgagttcatg acatggacac
     1501 aggtagagtg tcctttcgag aaggacaaga agattcagag ttacctgctc acggcgccca
     1561 tctacagcga ggaagctctc ttcgtcgcct cctttgaaag tgagggtccc gagaaccaca
     1621 tggaaaaaga cagctggaag accctcagga ccacccttct gaacagagcc tgaggcggat
     1681 gcagcccgcg acgccagagg aagcacgtgc actaactggg tttaaatttt gactgatgtg
     1741 ggttgagatg aggaggcctc actggttggg gtccattttg tatataactt ttatgagaaa
     1801 aaaatggtaa ttatttcacg catcaacctt tggcacttac aaagtttttt ttgtttattt
     1861 taaataacag ggcagggccc tgctttgggg agggggaggg gagagtatca tgggagatgg
     1921 tatccatgat aacatcttat tctaatgaaa tgtagatttt tattttctac ttttgattat
     1981 taacatctta tgaaaaaaat attttaaaaa acccagccaa aaccaacgtg agccctgcct
     2041 gctcggacgc ctttccagcc agtgtctctg acgtcggggt tagtgcctta gagggtactg
     2101 gggtctggtc ttcctgctct gtggtttggg ctgcggtgag tcccactcca cctgggcgcc
     2161 tgccctcagg agcctgggct gcgaggctcc ataggagggc tggtggctgg gaggtcgcgt
     2221 ccgcacactt ctggaagtga gcctttgagt acgggctgtc caaagtttac attttcattt
     2281 tcctttcagg gatttgtggg gtcagggagg ggcagggggc acctggcagc atattttctg
     2341 tgacaatgtg tccagcaaat cattcttcaa ctacatttta gaaaggagga aatctaaaat
     2401 aaggtaaggg agggaagcat ggagttgtca gttttctggg ctgtgactga aagacacact
     2461 gagctgtgat gaagaaaaat acatggccga ctccagggtg gtgacattta gagctagtct
     2521 tgaaacctat catctacaga ggggagggca gccaacagcc ctcttcccac ctgggtaggc
     2581 agcgccctaa ttggaattgg aaacagaaaa ttcgccaggc catactgctg gagcccattc
     2641 agataaaact gcccaatact gagaggtgtt ttctacaccc agctagagga gcacactcca
     2701 ttttcccatg tctgacttcg tggtgtgagc cctgggccct actgaccatg gcgcaggaca
     2761 gctgtccttc agaaagcaca cggtcaatcc acgtggaccg tctccctcgc aggaactccg
     2821 catccttgtc cctctgcatt cccagtttcc gcaggagcct tgatcaatgg ggaagcctgg
     2881 gtgaggatgg gccaggtccc aattcccaaa gctcctggaa gagcctgaag acattgggaa
     2941 aggctgggcc tggggaggag gcagccctgg gcccgctgcc catgcctctg gtcctgggtg
     3001 gagcaggaat agttccactg tattgtcaca gtgtgtttgc actttctgag gttctagcta
     3061 gtacagattg tatattgata gtacatattg ctttgtttat gtctttgaga tgagaaaggc
     3121 ttaaaacttg agaatatata tttggaatac agccttagaa cggtttctgt acacacccac
     3181 gtgcacttca cgggtgatca gttctagtac ctacttgaaa cagtgtctgt ctgctacttt
     3241 attttcccaa tttgatacat accctgattt gatgttttgg tatttgagat gaactctgag
     3301 tatgaagctg taccataatg caggacgtca gttttggtgt gactggacat acttgcttca
     3361 ataaaagaat acatcactcc cc
//
